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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-152337903-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=152337903&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 152337903,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_033632.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "NM_001349798.2",
"protein_id": "NP_001336727.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281708.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349798.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "ENST00000281708.10",
"protein_id": "ENSP00000281708.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001349798.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281708.10"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "ENST00000603548.6",
"protein_id": "ENSP00000474725.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603548.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "ENST00000603841.1",
"protein_id": "ENSP00000474971.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603841.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.406G>T",
"hgvs_p": "p.Asp136Tyr",
"transcript": "ENST00000296555.11",
"protein_id": "ENSP00000296555.4",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 589,
"cds_start": 406,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296555.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7-AS1",
"gene_hgnc_id": 52397,
"hgvs_c": "n.177C>A",
"hgvs_p": null,
"transcript": "ENST00000605147.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000605147.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "NM_033632.3",
"protein_id": "NP_361014.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033632.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "ENST00000865658.1",
"protein_id": "ENSP00000535717.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865658.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "ENST00000937353.1",
"protein_id": "ENSP00000607412.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937353.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "ENST00000703553.1",
"protein_id": "ENSP00000515369.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 689,
"cds_start": 760,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703553.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.520G>T",
"hgvs_p": "p.Asp174Tyr",
"transcript": "NM_018315.5",
"protein_id": "NP_060785.2",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 627,
"cds_start": 520,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018315.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.520G>T",
"hgvs_p": "p.Asp174Tyr",
"transcript": "ENST00000393956.9",
"protein_id": "ENSP00000377528.4",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 627,
"cds_start": 520,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393956.9"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.406G>T",
"hgvs_p": "p.Asp136Tyr",
"transcript": "NM_001013415.2",
"protein_id": "NP_001013433.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 589,
"cds_start": 406,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013415.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.259G>T",
"hgvs_p": "p.Asp87Tyr",
"transcript": "ENST00000703552.1",
"protein_id": "ENSP00000515368.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 529,
"cds_start": 259,
"cds_end": null,
"cds_length": 1591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703552.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "XM_011532084.3",
"protein_id": "XP_011530386.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532084.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "XM_011532085.3",
"protein_id": "XP_011530387.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532085.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "XM_024454123.2",
"protein_id": "XP_024309891.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454123.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "XM_047415897.1",
"protein_id": "XP_047271853.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415897.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "XM_047415898.1",
"protein_id": "XP_047271854.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415898.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "XM_047415899.1",
"protein_id": "XP_047271855.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415899.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "XM_047415900.1",
"protein_id": "XP_047271856.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415900.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW7",
"gene_hgnc_id": 16712,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Asp254Tyr",
"transcript": "XM_047415901.1",
"protein_id": "XP_047271857.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 707,
"cds_start": 760,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
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{
"score": 3,
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}